instruction
stringlengths 30
82
| output
stringlengths 13
790
|
|---|---|
How long is the variation length for RS587778856 SNP? | The variation length is 1 base pairs. |
What is the origin for RS587778856 SNP? | The origin is somatic. |
What is the type of genetic variation for RS587778856 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS587778856 SNP? | The resulting gene consequence is a synonymous variant. |
Which condition is asociated with RS587778845 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778845 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778845 SNP. |
In which chromosome is RS587778845 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587778845 SNP? | Associated methods are: research. |
What is the clinical significance of RS587778845 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587778845 SNP? | The variation length is 1 base pairs. |
What is the origin for RS587778845 SNP? | The origin is somatic. |
What is the type of genetic variation for RS587778845 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS587778845 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with RS587778847 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778847 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778847 SNP. |
In which chromosome is RS587778847 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587778847 SNP? | Associated methods are: research. |
What is the clinical significance of RS587778847 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587778847 SNP? | The variation length is 1 base pairs. |
What is the origin for RS587778847 SNP? | The origin is somatic. |
What is the type of genetic variation for RS587778847 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS587778847 SNP? | The resulting gene consequence is a missense variant. |
Which condition is asociated with RS587778863 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778863 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778863 SNP. |
In which chromosome is RS587778863 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587778863 SNP? | Associated methods are: research. |
What is the clinical significance of RS587778863 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587778863 SNP? | The variation length is 1 base pairs. |
What is the origin for RS587778863 SNP? | The origin is somatic. |
What is the type of genetic variation for RS587778863 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS587778863 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with RS587781256 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587781256 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587781256 SNP. |
In which chromosome is RS587781256 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587781256 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS587781256 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587781256 SNP? | The variation length is 21 base pairs. |
What is the origin for RS587781256 SNP? | The origin is germline. |
What is the type of genetic variation for RS587781256 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS587781256 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS587781257 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587781257 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587781257 SNP. |
In which chromosome is RS587781257 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587781257 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS587781257 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587781257 SNP? | The variation length is 1 base pairs. |
What is the origin for RS587781257 SNP? | The origin is germline. |
What is the type of genetic variation for RS587781257 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS587781257 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with DEL399102? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL399102. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL399102. |
In which chromosome is DEL399102 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL399102? | Associated methods are: clinical testing. |
What is the clinical significance of DEL399102, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL399102? | The variation length is 2601 base pairs. |
What is the origin for DEL399102? | The origin is germline. |
What is the type of genetic variation for DEL399102? | The variation is a Deletion. |
Which condition is asociated with DEL399611? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL399611. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL399611. |
In which chromosome is DEL399611 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL399611? | Associated methods are: clinical testing. |
What is the clinical significance of DEL399611, is it benign or pathogenic? | It is Likely pathogenic. |
How long is the variation length for DEL399611? | The variation length is 1850 base pairs. |
What is the origin for DEL399611? | The origin is germline. |
What is the type of genetic variation for DEL399611? | The variation is a Deletion. |
Which condition is asociated with DEL463437? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL463437. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL463437. |
In which chromosome is DEL463437 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL463437? | Associated methods are: clinical testing. |
What is the clinical significance of DEL463437, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL463437? | The variation length is 41756 base pairs. |
What is the origin for DEL463437? | The origin is germline. |
What is the type of genetic variation for DEL463437? | The variation is a Deletion. |
Which condition is asociated with RS1555282775 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1555282775 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1555282775 SNP. |
In which chromosome is RS1555282775 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1555282775 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1555282775 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1555282775 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1555282775 SNP? | The origin is germline. |
What is the type of genetic variation for RS1555282775 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS1555282775 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with RS1555294600 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1555294600 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1555294600 SNP. |
In which chromosome is RS1555294600 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1555294600 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1555294600 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1555294600 SNP? | The variation length is 2 base pairs. |
What is the origin for RS1555294600 SNP? | The origin is germline. |
What is the type of genetic variation for RS1555294600 SNP? | The variation is a Insertion. |
What is the genetic molecular consequence for RS1555294600 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with DEL527719? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL527719. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL527719. |
In which chromosome is DEL527719 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL527719? | Associated methods are: clinical testing. |
What is the clinical significance of DEL527719, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL527719? | The variation length is 176171 base pairs. |
What is the origin for DEL527719? | The origin is germline. |
What is the type of genetic variation for DEL527719? | The variation is a Deletion. |
Which condition is asociated with RS1566234123 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566234123 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566234123 SNP. |
In which chromosome is RS1566234123 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1566234123 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1566234123 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1566234123 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1566234123 SNP? | The origin is germline. |
What is the type of genetic variation for RS1566234123 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS1566234123 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1566199059 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566199059 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566199059 SNP. |
In which chromosome is RS1566199059 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1566199059 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1566199059 SNP, is it benign or pathogenic? | It is Pathogenic. |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.